|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with FTLD were distributed between FTLD-tau (34 patients: 10 corticobasal degeneration, nine progressive supranuclear palsy, eight Pick's disease, three frontotemporal dementia with parkinsonism associated with chromosome 17, three unclassifiable tauopathy, and one argyrophilic grain disease); FTLD-TDP (55 patients: nine type A including one with motor neuron disease, 27 type B including 21 with motor neuron disease, eight type C with right temporal lobe presentations, and 11 unclassifiable including eight with motor neuron disease), FTLD-FUS (eight patients), and one patient with FTLD-ubiquitin proteasome system positive inclusions (FTLD-UPS) that stained negatively for tau, TDP-43, and FUS.
|
29053860 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
This includes the discovery that the pathological changes in atypical FTLD with ubiquitinated inclusions, neuronal intermediate filament inclusion disease, and basophilic inclusion body disease are immunoreactive for the fused in sarcoma (FUS) protein, resulting in the creation of a new molecular subgroup (FTLD-FUS), and studies clarifying the functional consequences of pathogenic CHMP2B mutations.
|
21603977 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To characterize the topography of white matter pathology in neuronal intermediate filament inclusion disease (NIFID), a rare subtype of frontotemporal lobar degeneration (FTLD) with "fused in sarcoma" (FUS)-immunoreactive inclusions.
|
29956645 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, mutations in the fused in sarcoma gene have been shown to cause familial amyotrophic lateral sclerosis and fused in sarcoma-positive neuronal inclusions have subsequently been demonstrated in neuronal intermediate filament inclusion disease and atypical frontotemporal lobar degeneration with ubiquitinated inclusions.
|
21752791 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways.
|
25192599 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cytoplasmic FUS inclusions have also been identified in a subset of frontotemporal lobar degeneration (FTLD-FUS).
|
20606625 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations within TDP-43 or FUS are themselves neuropathogenic in ALS and some cases of FTLD.
|
28358904 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Altered Tau Isoform Ratio Caused by Loss of FUS and SFPQ Function Leads to FTLD-like Phenotypes.
|
28147269 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although the frequency of mutations is low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.
|
21158017 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Evidence suggests that cytoplasmic mislocalization of nuclear proteins such as transactive response DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) may be associated with neurotoxicity in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration.
|
28453527 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Identification of FTLD patients with mutations in genes for tau, TDP-43, and FUS lends strong support for their pathogenic roles in FTLD, and elucidation of their dysfunction will pave the way for development of substrate specific therapy.
|
21554923 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Rapidly progressive Fronto-temporal dementia (FTD) associated with Frontotemporal lobar degeneration (FTLD) in the presence of Fused in Sarcoma (FUS) protein: a rare, sporadic, and aggressive form of FTD.
|
28660843 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aFTLD-U subtype of FTLD-FUS is characterised clinically by behavioural variant frontotemporal dementia (bvFTD) and has a particularly young age of onset with a mean of 41 years.
|
20490813 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Indeed, significant hypomethylation, which occurs in FUS-associated frontotemporal lobar degeneration (FTLD), induces FUS condensation into stable intermolecular β-sheet-rich hydrogels that disrupt RNP granule function and impair new protein synthesis in neuron terminals.
|
29677515 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TDP-43 and FUS genes are linked to clinical ALS rather than FTLD (with or without ALS), suggesting that clinical ALS may be a disorder of RNA metabolism.
|
28100023 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, the fused in sarcoma/translated in liposarcoma (FUS) protein has been identified as a major constituent of nuclear and/or cytoplasmic ubiquitin-positive inclusions in patients with frontotemporal lobar degeneration or amyotrophic lateral sclerosis.
|
22118902 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hence, the spatial patterns of the NCI were compared in three molecular subtypes of FTLD: (1) two variants of FTLD-tau, viz. cortico-basal degeneration (CBD) and Pick's disease (PiD), (2) FTLD with transactive response (TAR) DNA-binding protein 43(TDP-43)-immunoreactive inclusions (FTLD-TDP), and (3) FTLD with 'fused in sarcoma' (FUS)-immunoreactive inclusions (FTLD-FUS).
|
28984110 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To gain better insight into the molecular interactions underlying this process, we investigated FUS, which is mutated and aggregated in both ALS and FTLD.
|
30021151 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review discusses the potential relevance of the prion-related domains in TDP-43 and FUS in normal physiology, pathologic aggregation, and disease progression in ALS and FTLD.
|
21135580 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using FUS as an example, this review examines the biophysics of this physiological process, and reports on how mutations and changes in post-translational state alter phase behaviour, and lead to neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
29723523 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dominant mutations and mislocalization or aggregation of Fused in Sarcoma (FUS), an RNA-binding protein (RBP), cause neuronal degeneration in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), two incurable neurological diseases.
|
23389473 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Large OPTN inclusions were not detected in FALS with SOD-1 and FUS mutation, respectively, or in FTLD-FUS cases.
|
21360076 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
More importantly, our data imply different pathological processes underlying inclusion formation and cell death between both conditions; the pathogenesis in amyotrophic lateral sclerosis with FUS mutations appears to be more restricted to dysfunction of fused in sarcoma, while a more global and complex dysregulation of all FET proteins is involved in the subtypes of frontotemporal lobar degeneration with fused in sarcoma pathology.
|
21856723 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together with recent data demonstrating differences in the arginine methylation status of FUS in FTLD-FUS and ALS-FUS, these findings strongly imply at least partially distinct underlying disease mechanisms in these molecular subtypes of ALS and FTLD.
|
24011641 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in fused in sarcoma (FUS), a DNA/RNA binding protein, have been associated with familial amyotrophic lateral sclerosis (fALS), which is a fatal neurodegenerative disease that causes progressive muscular weakness and has overlapping clinical and pathologic characteristics with frontotemporal lobar degeneration.
|
25216585 |
2014 |